Basic Information

Symbol
SCO2
RNA class
mRNA
Alias
Synthesis Of Cytochrome C Oxidase 2 SCO1L SCO2, Cytochrome C Oxidase Assembly Protein SCO Cytochrome C Oxidase Assembly Protein 2 Protein SCO2 Homolog, Mitochondrial MYP6 SCO (Cytochrome Oxidase Deficient, Yeast) Homolog 2 SCO Cytochrome Oxidase Deficient Homolog 2 (Yeast) Platelet-Derived Endothelial Cell Growth Factor SCO Cytochrome Oxidase Deficient Homolog 2 Thymidine Phosphorylase Gliostatin Myopia 6 CEMCOX1 PD-ECGF TdRPase MC4DN2 ECGF1 TYMP TP
Location (GRCh38)
22:50523564-50526461
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden unexpected death diagnosis Cause of death analysis Mechanical injury analysis Wound age identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005138.3
Sequence length
984.0 nt
GC content
0.6413

Transcripts

ID Sequence Length GC content
NM_001169109.2 NCBI
GACUCAGGCCCAGGGCGCUGCCCGGGUGGCCGCGGCGCUGGACGACGGC… 1054 nt 0.6509
NM_001169110.1 NCBI
GCAGGCACCGUGGAGCUGGUCCGGGCGCUGCCGCUGGCGCUGGUGCUGC… 1002 nt 0.6477
NM_001169111.2 NCBI
GACGCCUGCGCCCUGCCUGUGAGCGUGUGGCGCCCGCUUUCCCUGAGCC… 1014 nt 0.6460
NM_005138.3 NCBI
GACGCCUGCGCCCUGCCUGUGAGCGUGUGGCGCCCGCUUUCCCUGAGCC… 984 nt 0.6413
Summary

C yto c hrome c oxidase ( C OX) c atalyzes the transfer of ele c trons from c yto c hrome c to mole c ular oxygen, whi c h helps to maintain the proton gradient a c ross the inner mito c hondrial membrane that is ne c essary for aerobi c ATP produ c tion. Human C OX is a multimeri c protein c omplex that requires several assembly fa c tors; this gene en c odes one of the C OX assembly fa c tors. The en c oded protein is a metallo c haperone that is involved in the biogenesis of c yto c hrome c oxidase subunit II. Mutations in this gene are asso c iated with fatal infantile en c ephalo c ardiomyopathy and myopia 6. [provided by RefSeq, O c t 2014]

Forensic Context

A study in humans identified a 5' UTR variant (c.-135G>C) in the SCO2 gene as a candidate variant for sudden unexplained death (SUD) predisposition, which was validated by a dual-luciferase reporter assay to significantly reduce downstream gene expression [Wang et al. DOI:10.007/s00414-024-03329-6]. In a separate human study, the SCO2 gene was found to be downregulated as part of the inhibited respiratory electron transport pathway in the prefrontal cortex, hippocampus, kidneys, and heart during septic shock [Pinheiro da Silva et al. DOI:10.1111/jcmm.17938]. A study in rats demonstrated that traumatic brain injury (TBI) induces significant, time-dependent reductions in the mRNA expression of the SCO2 subunits CO I, CO II, and CO III within the injured cerebral cortex, reaching minimal levels at 3 days post-injury before partial recovery [Dai et al. DOI:10.1016/j.brainres.2008.11.034]. These quantitative changes, detected via real-time PCR, serve as sensitive indicators of post-traumatic mitochondrial metabolic dysfunction and the severity of secondary brain damage, with the contralateral cortex showing only mild, non-significant alterations in expression.